Unique variants in gene SYNE1

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_182961.3 transcript reference sequence.

1055 entries on 11 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/. 6 6, 104, 77, 127, 140, 134 c.? VUS r.? p.? g.? - 758A>G (N253S), 1929A>G (N6432S), 1376C>A (F4592L), 2304G>A (V7683I), 2519G>A (D8400N), 1 more item - LAMA2_000000 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-/. 1 - c.-529C>T benign r.(?) p.(=) g.152958461G>A - - - SYNE1_000322 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 5' UTR c.-9G>T VUS r.(?) p.(=) g.152949475C>A - - - SYNE1_000853 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-/. 1 129i c.(23301+1_23302-1)C>T - r.(?) p.(=) g.(152501430_152510386)G>A - g.471967G>A - SYNE1_000043 - PubMed: Gros-Louis 2007 - - Germline - - - - - Johan den Dunnen
-/. 1 136i c.(24642+1_24643-1)C>T - r.(?) p.(=) g.(152469514_152470611)G>A - g.482601C>T - SYNE1_000044 - PubMed: Gros-Louis 2007 - - Germline - - - - - Johan den Dunnen
+/. 1 145i_146_ c.(26153+1_26154-1del)_(*1_?)del - r.(26095_*749delins(183)) p.? g.(?_152443570)_(152443812_152451854)deldel - - - SYNE1_000000 data from mouse model PubMed: Puckelwartz 2009 - - In vitro (cloned) - - - - - Johan den Dunnen
?/. 3 2 c.23C>T VUS r.(?) p.(Ser8Phe) g.152949444G>A - - - SYNE1_000852 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 - c.25C>T VUS r.(?) p.(Arg9Trp) g.152949442G>A - SYNE1(NM_182961.3):c.25C>T (p.R9W) - SYNE1_001015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.38del pathogenic r.(?) p.(Asp13Valfs*5) g.152949429del g.152628294del - - SYNE1_000033 - - - - Unknown - - - - - IMGAG
?/. 1 3 c.68A>G VUS r.(?) p.(Asp23Gly) g.152861156T>C - - - SYNE1_000851 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/. 1 - c.93A>G likely benign r.(?) p.(=) g.152861131T>C - - - SYNE1_001074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 3 c.116C>G VUS r.(?) p.(Ser39Cys) g.152861108G>C - - - SYNE1_000850 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 2 3 c.118C>T VUS r.(?) p.(His40Tyr) g.152861106G>A - SYNE1(NM_182961.3):c.118C>T (p.H40Y) - SYNE1_000299 VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - Germline, CLASSIFICATION record - - - - - Madhuri Hegde, VKGL-NL
-?/., -/. 3 - c.156T>C likely benign, benign r.(?) p.(=) g.152847284A>G - SYNE1(NM_182961.3):c.156T>C (p.D52=) - SYNE1_001014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
-?/. 1 - c.216G>A likely benign r.(?) p.(=) g.152847224C>T - SYNE1(NM_182961.3):c.216G>A (p.G72=) - SYNE1_001013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., +/. 2 4i c.226-2dup VUS, pathogenic r.spl? p.? g.152841679dup - 226-2dupA, SYNE1(NM_182961.3):c.226-2dupA - SYNE1_000298 VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - Germline, CLASSIFICATION record - - - - - Madhuri Hegde, VKGL-NL
?/. 2 5 c.245G>T VUS r.(?) p.(Arg82Leu) g.152841658C>A - - - SYNE1_000849 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 - c.253C>T pathogenic r.(?) p.(Arg85*) g.152841650G>A - SYNE1(NM_182961.3):c.253C>T (p.R85*) - SYNE1_001012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 5 c.290A>G VUS r.(?) p.(Lys97Arg) g.152841613T>C - - - SYNE1_000848 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 6i c.309+1G>A pathogenic (recessive) r.spl p.? g.152841593C>T - NM_033071.3:c.309+1G>A - SYNE1_000903 - PubMed: Synofzik 2016 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.309+9_309+10del likely benign r.(=) p.(=) g.152841589_152841590del - SYNE1(NM_182961.3):c.309+9_309+10delGA - SYNE1_000296 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 6 c.310-469C>T VUS r.(?) p.? g.152832707G>A - - - SYNE1_000847 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 - c.323A>G pathogenic (dominant) r.(?) p.(Asn108Ser) g.152832225T>C - 323C>T (N108S) - SYNE1_000861 - PubMed: Fanin 2015 - - Germline yes - - - - Johan den Dunnen
?/. 1 7 c.334A>T VUS r.(?) p.(Thr112Ser) g.152832214T>A - - - SYNE1_000846 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 7 c.337G>A VUS r.(?) p.(Asp113Asn) g.152832211C>T - - - SYNE1_000845 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 7 c.338A>G VUS r.(?) p.(Asp113Gly) g.152832210T>C - - - SYNE1_000844 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 7 c.340A>G VUS r.(?) p.(Ile114Val) g.152832208T>C - - - SYNE1_000843 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 2 - c.352C>T pathogenic, pathogenic (recessive) r.(?) p.(Arg118*) g.152832196G>A - NM_033071.3:c.810C>CT (R125X) - SYNE1_000862 VKGL data sharing initiative Nederland PubMed: Noreau 2013 - - CLASSIFICATION record, Germline yes - - - - VKGL-NL, Johan den Dunnen
+/. 1 7 c.374T>A pathogenic (recessive) r.0 p.0 g.152832174A>T - NM_033071.3:c.395T>A - SYNE1_000860 - PubMed: Synofzik 2016 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.379T>A VUS r.(?) p.(Trp127Arg) g.152832169A>T - SYNE1(NM_182961.3):c.379T>A (p.W127R) - SYNE1_000295 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 7 c.395A>G VUS r.(?) p.(Tyr132Cys) g.152832153T>C - - - SYNE1_000842 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-/. 1 - c.402+11A>G benign r.(=) p.(=) g.152832135T>C - SYNE1(NM_182961.3):c.402+11A>G - SYNE1_000293 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 8 c.495C>A VUS r.(?) p.(Ser165Arg) g.152831414G>T - - - SYNE1_000841 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 8 c.508C>T VUS r.(?) p.(Arg170Trp) g.152831401G>A - - - SYNE1_000840 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+?/. 1 - c.532G>C likely pathogenic (recessive) r.(?) p.(Gly178Arg) g.152831377C>G - G553C - SYNE1_000867 - PubMed: Izumi 2013 - - Germline - - - - - Johan den Dunnen
?/. 1 9 c.590G>A VUS r.(?) p.(Gly197Glu) g.152826524C>T - - - SYNE1_000839 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 9 c.638T>C pathogenic (recessive) r.(?) p.(Phe213Ser) g.152826476A>G - NM_033071.3:c.659T>C - SYNE1_000902 - PubMed: Synofzik 2016 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.646G>T VUS r.(?) p.(Val216Phe) g.152826468C>A - SYNE1(NM_182961.3):c.646G>T (p.V216F) - SYNE1_001010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 2 9 c.661C>T pathogenic (recessive) r.(?) p.(Arg221*) g.152826453G>A - NM_033071.3:c.682C>T - SYNE1_000901 - PubMed: Synofzik 2016 - - Germline yes - - - - Johan den Dunnen
+/. 1 9 c.706C>T pathogenic (recessive) r.(?) p.(Arg236*) g.152826408G>A - NM_033071.3:c.727C>T - SYNE1_000900 - PubMed: Synofzik 2016 - - Germline - - - - - Johan den Dunnen
?/. 1 10 c.781G>A VUS r.(?) p.(Val261Ile) g.152823875C>T - - - SYNE1_000838 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 10 c.797C>A VUS r.(?) p.(Pro266Gln) g.152823859G>T - - - SYNE1_000837 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 10 c.862G>A VUS r.(?) p.(Ala288Thr) g.152823794C>T - - - SYNE1_000836 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 11 c.939G>T VUS r.(?) p.(Lys313Asn) g.152819877C>A - - - SYNE1_000835 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 - c.939+2T>C VUS r.spl? p.? g.152819875A>G - SYNE1(NM_182961.3):c.939+2T>C - SYNE1_000292 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 12 c.941G>T VUS r.(?) p.(Arg314Ile) g.152809637C>A - - - SYNE1_000834 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 2 12 c.1038T>C VUS r.(?) p.(=) g.152809540A>G - - - SYNE1_000833 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-/. 4 - c.1047+4T>A benign r.spl? p.? g.152809527A>T - SYNE1(NM_182961.3):c.1047+4T>A - SYNE1_000291 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_Groningen, VKGL-NL_AMC
-?/. 1 - c.1047+6G>A likely benign r.(=) p.(=) g.152809525C>T - SYNE1(NM_182961.3):c.1047+6G>A - SYNE1_001009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1113A>G likely benign r.(?) p.(=) g.152806042T>C - SYNE1(NM_182961.3):c.1113A>G (p.P371=) - SYNE1_001008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 8 13 c.1141G>A VUS r.(?) p.(Asp381Asn) g.152806014C>T - SYNE1(NM_182961.3):c.1141G>A (p.D381N) - SYNE1_000290 no second variant, VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - Germline, CLASSIFICATION record - - - - - Madhuri Hegde, VKGL-NL
?/. 2 14 c.1186C>G VUS r.(?) p.(Leu396Val) g.152804384G>C - - - SYNE1_000832 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 - c.1304A>G VUS r.(?) p.(His435Arg) g.152804266T>C - SYNE1(NM_182961.3):c.1304A>G (p.H435R) - SYNE1_001007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 14 c.1322C>T VUS r.(?) p.(Thr441Met) g.152804248G>A - - - SYNE1_000831 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 14 c.1330C>T VUS r.(?) p.(Arg444Trp) g.152804240G>A - - - SYNE1_000830 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 15 c.1391A>G VUS r.(?) p.(His464Arg) g.152793508T>C - - - SYNE1_000829 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 - c.1420G>A VUS r.(?) p.(Gly474Arg) g.152793479C>T - SYNE1(NM_182961.3):c.1420G>A (p.G474R) - SYNE1_001073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1428A>G likely benign r.(?) p.(=) g.152793471T>C - SYNE1(NM_182961.3):c.1428A>G (p.P476=) - SYNE1_000288 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1431G>T likely benign r.(?) p.(=) g.152793468C>A - - - SYNE1_001072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1483A>G likely benign r.(?) p.(Thr495Ala) g.152792881T>C - SYNE1(NM_182961.3):c.1483A>G (p.T495A) - SYNE1_000287 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 - c.1544T>A VUS r.(?) p.(Leu515Gln) g.152792820A>T - SYNE1(NM_182961.3):c.1544T>A (p.L515Q) - SYNE1_000286 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
-/. 1 16i c.1633-81T>C - r.(?) p.(=) g.152787294A>G g.152466159A>G g.162173T>C - SYNE1_000038 - PubMed: Gros-Louis 2007 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.1665A>C VUS r.(?) p.(Gln555His) g.152787181T>G - SYNE1(NM_182961.3):c.1665A>C (p.Q555H) - SYNE1_000285 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 17 c.1694A>G VUS r.(?) p.(Gln565Arg) g.152787152T>C - - - SYNE1_000828 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 - c.1702G>T pathogenic r.(?) p.(Glu568*) g.152787144C>A - - - SYNE1_000321 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1708T>C VUS r.(?) p.(Tyr570His) g.152787138A>G - - - SYNE1_001071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 17 c.1723G>T VUS r.(?) p.(Gly575Cys) g.152787123C>A - - - SYNE1_000827 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-/. 1 17i c.1729+91C>T - r.(?) p.(=) g.152787026G>A g.152465891G>A g.162441C>T - SYNE1_000037 - PubMed: Gros-Louis 2007 - - Germline - 1/190 - - - Johan den Dunnen
?/. 2 17i c.1730-7G>A VUS r.spl?, r.spl p.? g.152786602C>T - - - SYNE1_000826 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/. 1 - c.1838C>T likely benign r.(?) p.(Ser613Phe) g.152786487G>A - SYNE1(NM_033071.3):c.1859C>T (p.(Ser620Phe)) - SYNE1_001006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.1878A>G likely benign r.(?) p.(=) g.152786447T>C - SYNE1(NM_182961.3):c.1878A>G (p.Q626=) - SYNE1_000284 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Rotterdam
+/. 1 18 c.1912C>T pathogenic r.(?) p.(Gln638*) g.152786413G>A - - - SYNE1_000825 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+?/., -?/. 4 19 c.1964A>G likely pathogenic, likely benign r.(?) p.(Gln655Arg) g.152784621T>C - SYNE1(NM_033071.3):c.1985A>G (p.(Gln662Arg)), SYNE1(NM_182961.3):c.1964A>G (p.Q655R) - SYNE1_000342 VKGL data sharing initiative Nederland PubMed: Schuurs-Hoeijmakers 2013 - - Germline, CLASSIFICATION record yes - - - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_Leiden, VKGL-NL_Utrecht
-?/., -/. 2 - c.1983C>T likely benign, benign r.(?) p.(=) g.152784602G>A - SYNE1(NM_182961.3):c.1983C>T (p.N661=) - SYNE1_000283 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/. 1 19 c.2030G>A VUS r.(?) p.(Arg677His) g.152784555C>T - - - SYNE1_000824 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 19 c.2065C>A VUS r.(?) p.(=) g.152784520G>T - - - SYNE1_000823 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+?/. 1 20 c.2154del likely pathogenic r.(?) p.(Thr719Profs*17) g.152783969del - 2175delT - SYNE1_000822 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/. 1 - c.2174C>T likely benign r.(?) p.(Thr725Met) g.152783949G>A - SYNE1(NM_182961.3):c.2174C>T (p.T725M) - SYNE1_000282 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 3 20 c.2210T>C VUS r.(?) p.(Val737Ala) g.152783913A>G - SYNE1(NM_182961.3):c.2210T>C (p.V737A) - SYNE1_000821 VKGL data sharing initiative Nederland, no second variant PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - VKGL-NL, Madhuri Hegde
-?/. 1 - c.2221A>C likely benign r.(?) p.(Asn741His) g.152783902T>G - SYNE1(NM_033071.3):c.2242A>C (p.(Asn748His)) - SYNE1_001005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2360C>T VUS r.(?) p.(Ala787Val) g.152782766G>A - SYNE1(NM_182961.3):c.2360C>T (p.A787V) - SYNE1_000281 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2386C>G VUS r.(?) p.(Leu796Val) g.152782740G>C - SYNE1(NM_182961.3):c.2386C>G (p.L796V) - SYNE1_000280 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2395G>A likely benign r.(?) p.(Val799Ile) g.152780065C>T - SYNE1(NM_182961.3):c.2395G>A (p.V799I) - SYNE1_001004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2474C>T likely benign r.(?) p.(Thr825Met) g.152779986G>A - SYNE1(NM_033071.3):c.2495C>T (p.(Thr832Met)) - SYNE1_001003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 3 - c.2527C>T benign r.(?) p.(Arg843Cys) g.152779933G>A - SYNE1(NM_182961.3):c.2527C>T (p.R843C) - SYNE1_000279 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.2528G>A likely benign r.(?) p.(Arg843His) g.152779932C>T - SYNE1(NM_182961.3):c.2528G>A (p.R843H) - SYNE1_000278 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 22i c.2568+3G>A VUS r.spl p.? g.152779889C>T - - - SYNE1_000820 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-/. 1 - c.2569-640C>T benign r.(=) p.(=) g.152777819G>A - SYNE1(NM_182961.3):c.2569-640C>T - SYNE1_000277 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2569-8C>T likely benign r.(=) p.(=) g.152777187G>A - SYNE1(NM_182961.3):c.2569-8C>T - SYNE1_000276 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 23 c.2608A>T VUS r.(?) p.(Thr870Ser) g.152777140T>A - - - SYNE1_000819 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 4 23 c.2630A>G VUS r.(?) p.(Gln877Arg) g.152777118T>C - - - SYNE1_000818 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/. 1 - c.2651C>A likely benign r.(?) p.(Thr884Asn) g.152777097G>T - SYNE1(NM_182961.3):c.2651C>A (p.T884N) - SYNE1_000275 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.2653T>G benign r.(?) p.(Leu885Val) g.152777095A>C - SYNE1(NM_182961.3):c.2653T>G (p.L885V) - SYNE1_000274 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
-?/. 2 - c.2685G>A likely benign r.(?) p.(=) g.152777063C>T - SYNE1(NM_182961.3):c.2685G>A (p.T895=) - SYNE1_000273 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Rotterdam
-?/. 1 - c.2697A>G likely benign r.(?) p.(=) g.152777051T>C - SYNE1(NM_182961.3):c.2697A>G (p.R899=) - SYNE1_000272 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.2728-25C>T benign r.(=) p.(=) g.152776750G>A - SYNE1(NM_182961.3):c.2728-25C>T - SYNE1_000271 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 3 24 c.2728A>G VUS r.(?) p.(Ser910Gly) g.152776725T>C - - - SYNE1_000817 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 24 c.2755A>T pathogenic (recessive) r.(?) p.(Lys919*) g.152776698T>A - NM_033071.3:c.2776A>T - SYNE1_000899 - PubMed: Synofzik 2016 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.2861G>A VUS r.(?) p.(Gly954Glu) g.152776592C>T - - - SYNE1_001070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2882G>A likely benign r.(?) p.(Arg961Gln) g.152776571C>T - SYNE1(NM_182961.3):c.2882G>A (p.R961Q) - SYNE1_001002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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